Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions.
Hugh-Owen ColhounEstela M Rubio GozalboAnnet M BoschIna KnerrCharlotte DawsonJennifer BradyMarie GalliganKarolina StepienRoisin O'FlahertyC Catherine MossP Peter BarkerMaria FitzgibbonPeter P DoranEileen P TreacyPublished in: Orphanet journal of rare diseases (2018)
These results validate our previous findings and provide novel experimental evidence for dysregulation of genes LEP, LEPR, ANXA1, ICAM1 and SEPT4 for CG patients and combined with our findings of abnormalities of IgG glycosylation, hormonal and leptin analyses elaborate on the systemic glycosylation and cell signalling abnormalities evident in CG which likely influence the pathophysiology of POI.